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Deficiência de adesão leucocitária
ORPHA:2968CID-10 · D84.8CID-11 · 4A00.0YDOENÇA RARA

A deficiência de adesão leucocitária (LAD) é uma imunodeficiência primária caracterizada por defeitos no processo de adesão leucocitária, leucocitose acentuada e infecções recorrentes.

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Introdução

O que você precisa saber de cara

📋

A deficiência de adesão leucocitária (LAD) é uma imunodeficiência primária caracterizada por defeitos no processo de adesão leucocitária, leucocitose acentuada e infecções recorrentes.

Pesquisas ativas
2 ensaios
22 total registrados no ClinicalTrials.gov
Publicações científicas
662 artigos
Último publicado: 2026 Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Latin America
Casos conhecidos
350
pacientes catalogados
Início
Childhood
+ infancy
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D84.8
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
16 sintomas
🩸
Sangue
14 sintomas
🦴
Ossos e articulações
11 sintomas
😀
Face
10 sintomas
🫃
Digestivo
8 sintomas
📏
Crescimento
7 sintomas

+ 50 sintomas em outras categorias

Características mais comuns

90%prev.
Infecções bacterianas recorrentes
Muito frequente (99-80%)
90%prev.
Anormalidade da fisiologia do neutrófilo
Muito frequente (99-80%)
90%prev.
Quimiotaxia de neutrófilos prejudicada
Muito frequente (99-80%)
55%prev.
Gengivite
Frequente (79-30%)
55%prev.
Pneumonia
Frequente (79-30%)
55%prev.
Separação atrasada do cordão umbilical
Frequente (79-30%)
143sintomas
Muito frequente (3)
Frequente (16)
Ocasional (29)
Muito raro (4)
Sem dados (91)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 143 características clínicas mais associadas, ordenadas por frequência.

Infecções bacterianas recorrentesRecurrent bacterial infections
Muito frequente (99-80%)90%
Anormalidade da fisiologia do neutrófiloAbnormality of neutrophil physiology
Muito frequente (99-80%)90%
Quimiotaxia de neutrófilos prejudicadaImpaired neutrophil chemotaxis
Muito frequente (99-80%)90%
GengiviteGingivitis
Frequente (79-30%)55%
Pneumonia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico662PubMed
Últimos 10 anos197publicações
Pico201923 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

FERMT3Fermitin family homolog 3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity) Isoform 2 may act as a repressor of NF-kappa-B and apoptosis

LOCALIZAÇÃO

Cell projection, podosome

VIAS BIOLÓGICAS (1)
Platelet degranulation
MECANISMO DE DOENÇA

Leukocyte adhesion deficiency 3

A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
258.2 TPM
Linfócitos
220.1 TPM
Baço
175.3 TPM
Pulmão
75.3 TPM
Intestino delgado
36.9 TPM
OUTRAS DOENÇAS (1)
leukocyte adhesion deficiency 3
HGNC:23151UniProt:Q86UX7
SLC35C1GDP-fucose transporter 1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen

LOCALIZAÇÃO

Golgi apparatus membrane

VIAS BIOLÓGICAS (2)
Transport of nucleotide sugarsGDP-fucose biosynthesis
MECANISMO DE DOENÇA

Congenital disorder of glycosylation 2C

A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
50.7 TPM
Fígado
45.0 TPM
Glândula salivar
35.6 TPM
Tecido adiposo
28.5 TPM
Fibroblastos
28.4 TPM
OUTRAS DOENÇAS (1)
leukocyte adhesion deficiency type II
HGNC:20197UniProt:Q96A29
ITGB2Integrin beta-2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Integrin ITGAL:ITGB2 is a receptor for ICAM1, ICAM2 and ICAM3 (PubMed:1676048, PubMed:23775590, PubMed:38195629). Integrin ITGAL:ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM:ITGB2 and ITGAX:ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX:ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM:ITGB2 recogniz

LOCALIZAÇÃO

Cell membraneMembrane raft

VIAS BIOLÓGICAS (1)
Neutrophil degranulation
MECANISMO DE DOENÇA

Leukocyte adhesion deficiency 1

LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
532.6 TPM
Baço
189.6 TPM
Linfócitos
124.6 TPM
Pulmão
97.5 TPM
Tecido adiposo
38.0 TPM
OUTRAS DOENÇAS (1)
leukocyte adhesion deficiency 1
HGNC:6155UniProt:P05107

Variantes genéticas (ClinVar)

277 variantes patogênicas registradas no ClinVar.

🧬 FERMT3: NM_031471.6(FERMT3):c.1295_1296insACTGCGGTGCCAGGATGTGAGTGAGATCTA (p.Tyr432Ter) ()
🧬 FERMT3: NM_031471.6(FERMT3):c.224del (p.Gln75fs) ()
🧬 FERMT3: NM_031471.6(FERMT3):c.1462del (p.His488fs) ()
🧬 FERMT3: NM_031471.6(FERMT3):c.786+258G>T ()
🧬 FERMT3: NM_031471.6(FERMT3):c.-14-9T>A ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,689 variantes classificadas pelo ClinVar.

84
338
1267
Patogênica (5.0%)
VUS (20.0%)
Benigna (75.0%)
VARIANTES MAIS SIGNIFICATIVAS
ITGB2: NM_000211.5(ITGB2):c.500-1G>A [Likely pathogenic]
ITGB2: NM_000211.5(ITGB2):c.1759C>T (p.Arg587Cys) [Uncertain significance]
FERMT3: NM_031471.6(FERMT3):c.1823A>G (p.Glu608Gly) [Uncertain significance]
ITGB2: NM_000211.5(ITGB2):c.2143A>G (p.Ile715Val) [Uncertain significance]
FERMT3: NM_031471.6(FERMT3):c.1738G>A (p.Ala580Thr) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 25
1Fase 12
·Pré-clínico6
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 15 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Deficiência de adesão leucocitária

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

22 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
188 papers (10 anos)
#1

Integrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.

Cell communication and signaling : CCS2026 Jan 21

Impaired integrin activation on neutrophils is the hallmark of leukocyte adhesion deficiency syndrome in humans, characterized by reduced leukocyte recruitment. The regulation of intracellular calcium levels in neutrophils is important for cellular processes; however, the exact role of store-operated calcium entry (SOCE) and the involvement of stromal interaction molecule (STIM) calcium sensors, and ORAI1-3 calcium channels in neutrophil activation and recruitment is unknown. Using an acute kidney injury (AKI) model, intravital microscopy, and biochemical studies, we examined the molecular mechanisms of Ca2+-regulated neutrophil activation and recruitment. We demonstrate that STIM1 and ORAI1 in neutrophils are selectively required for E-selectin- and CXCL-1-, but not P-selectin-mediated activation of the β2-integrin CD11a and neutrophil recruitment. Surprisingly, we did not detect an impact of STIM and ORAI isoform expression on neutrophil CD11b activation. Using a clinically relevant murine AKI model, we point out that STIM1- and ORAI1-deficiency in neutrophils prevents neutrophil recruitment into the kidney during sterile inflammation. Thus, we uncover stimulus specific integrin regulation in neutrophils as a critical determinant of an adequate immune response and pinpoint the clinical relevance of STIM1 and ORAI1.

#2

Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence.

Cells2026 Jan 01

(1) Background: Wound healing is a highly coordinated process encompassing hemostasis, inflammation, angiogenesis, keratinocyte migration, collagen deposition, and extracellular matrix remodeling. Successful repair also requires adequate nutrient and oxygen delivery through a well-developed vascular supply. Disruption of these processes can occur through aberrations in diverse biological pathways, including extracellular matrix organization, cellular adhesions, angiogenesis, and immune regulation. (2) Methods: We reviewed mechanisms of impaired tissue repair in monogenic disorders by focusing on three categories-connective tissue, hematological/immunological, and aging-related disorders-to illustrate how single-gene defects disrupt inflammation, cellular proliferation, and matrix remodeling. Additionally, we reviewed various polygenic disorders-chronic kidney disease, diabetes mellitus, hypertension, and obesity-to contrast complex multifactorial pathologies with single-gene defects. (3) Results: This review establishes that genetic impediments, despite their distinct etiologies, monogenic and polygenic disorders share critical downstream failures in the wound healing cascade. While monogenic diseases illustrate direct causal links between specific protein deficits and repair failure, polygenic diseases demonstrate how multifactorial stressors overwhelm the body's regenerative capacity. (4) Conclusions: This review synthesizes current evidence on both monogenic diseases and polygenic contributions to impaired wound healing. These findings highlight that genetic susceptibility is a decisive factor in the ability to restore tissue homeostasis. This underscores the profound impact of genetic background on the efficacy of hemostasis, inflammation, and remodeling.

#3

L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.

Molecular genetics and metabolism2026 Mar

Fucosylation disorders are rare types of congenital disorders of glycosylation (CDG), the most common being SLC35C1-CDG, which is classically described as a leukocyte adhesion deficiency (hence the previous name of "leukocyte adhesion deficiency type II") with dysmorphic features, short stature, and moderate-to-severe developmental and intellectual disabilities. In more recent years, several cases have been described of individuals with bi-allelic SLC35C1 variants and biochemical proof of hypofucosylation who had short stature, dysmorphic features, and intellectual disability, but no hematological abnormalities. In this article, we report a patient with growth faltering, neuroirritability, nystagmus, developmental delays, microcephaly, dysmorphic features, and hypogammaglobulinemia G. Biochemical investigations including serum N-glycan profiling, fucosylation-focused whole serum glycoprotein profiling, and serum lectin blots, all of which showed significant global hypofucosylation. Exome sequencing revealed a single likely pathogenic variant, SLC35C1 (NM_018389.4):c.503_505delTCT, p.(Phe168del), which was inherited from an unaffected mother. Whole genome sequencing with manual review of raw data did not reveal any second pathogenic variants; SLC35C1 mRNA sequencing was negative for changes in the second allele or allelic imbalance. The patient was started on L-fucose supplementation, with subsequent improvements in weight and head circumference, normalization of IgG levels, and remarkable developmental catch-up. Biochemically, there was an increase in abundance of previously decreased fucosylated glycan species in serum, especially Fuc1GlcNAc2Man3 (a glycan that is known to be enriched in neutrophils). In summary, we present here further evidence for the role of L-fucose supplementation in treating hypofucosylation disorders and suggest that IgG and fucosylated glycan species may be useful as biomarkers in this scenario, although further research is needed to validate them as such. It is likely that the early introduction of L-fucose in this patient may have led to the excellent developmental outcomes observed.

#4

Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.

Clinical and experimental dermatology2026 Feb 10
#5

Bone marrow transplantation for leukocyte adhesion deficiency type III: immunosuppressant dosage adjustments against severe T-cell mixed chimerism.

Blood cell therapy2025 Nov 25

Allogeneic stem cell transplantation from an HLA-mismatched unrelated donor was performed for a patient with leukocyte adhesion deficiency type III with a myeloablative regimen including full-dose busulfan. Mixed chimerism with donor-derived T cells at less than 10% was observed within 4 weeks after transplantation. Repeated cycles of discontinuation and resumption of tacrolimus early after transplantation were performed with the aim of reversing the recipient-dominant T-cell chimerism. Specifically, tacrolimus was quickly tapered on day 15 and discontinued on day 20 when the recipient's chimerism increased, and resumed upon the observation of early signs of acute graft-versus-host disease, such as fever and skin rash, on day 24. This process was repeated from day 30 to day 44. All subsets, including granulocytes, T cells, and natural killer cells, attained donor chimerism of more than 90% on day 42 after transplantation and 100% at day 82 and beyond. Immunosuppressant dosage adjustments may be a treatment option for mixed chimerism after stem cell transplantation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC353 artigos no totalmostrando 195

2026

Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.

Clinical and experimental dermatology
2026

Integrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.

Cell communication and signaling : CCS
2026

L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.

Molecular genetics and metabolism
2026

Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence.

Cells
2025

Differences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.

Biomedicines
2025

Bone marrow transplantation for leukocyte adhesion deficiency type III: immunosuppressant dosage adjustments against severe T-cell mixed chimerism.

Blood cell therapy
2025

What should be investigated in delayed umbilical cord separation: Two case reports.

World journal of clinical pediatrics
2025

''Clinical Management of Acute Mastoiditis in a Pediatric Patient with Leukocyte Adhesion Deficiency''.

Journal of otology
2025

Periodontal Manifestations of Systemic Diseases.

Journal of periodontal research
2025

Hematopoietic cell transplantation for leukocyte adhesion deficiency: prevention of graft-versus-host-disease.

Expert review of hematology
2025

Successful management of a pediatric cardiac patient with Bombay blood group and leukocyte adhesion deficiency type II: A case report and literature review.

Saudi journal of anaesthesia
2025

An atypical adolescent case of leukocyte adhesion deficiency I caused by a novel ITGB2 splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation.

Clinical and experimental immunology
2025

Hydrophobicity-Driven Disruption Mechanism in Kindlin-3 Induced by Leukocyte Adhesion Deficiency Mutation.

ACS omega
2025

Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1.

The New England journal of medicine
2025

Leukocyte adhesion deficiency type III in an infant presenting with intestinal perforation and low percentage of natural killer cells: first case report from Iran.

BMC pediatrics
2025

A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review.

Archives of dermatological research
2025

Lymphoblastoid and Jurkat cell lines are useful surrogate in developing a CRISPR-Cas9 method to correct leukocyte adhesion deficiency genomic defect.

Frontiers in bioengineering and biotechnology
2025

A Novel Variant of the FERMT3 Gene Associated With Leukocyte Adhesion Deficiency Type III (LAD-III) in a Saudi Family: A Case Series.

Cureus
2025

Gene therapy for inborn errors of immunity: Current clinical progress.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2024

Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report.

Frontiers in immunology
2025

Viral-based gene therapy clinical trials for immune deficiencies and blood disorders from 2013 until 2023 - an overview.

Regenerative therapy
2024

Distribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective.

Animals : an open access journal from MDPI
2024

Eight induced pluripotent stem cell lines (iPSCs) derived from two patients with Leukocyte adhesion deficiency Type I (LAD I) with mutations in the ITGB2 gene.

Stem cell research
2024

Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Immunogenetics
2024

Unveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.

Molecular biology reports
2024

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review.

Genes
2024

Sweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature.

Frontiers in immunology
2024

The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.

Immunogenetics
2024

Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients.

The international journal of biochemistry &amp; cell biology
2024

Multiplex fluorescent amplification-refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay.

Animal genetics
2024

Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children.

Journal of clinical immunology
2024

Ustekinumab for pyoderma gangrenosum-like skin ulcerations in late-onset leukocyte adhesion deficiency.

The journal of allergy and clinical immunology. Global
2024

Integrins in Health and Disease-Suitable Targets for Treatment?

Cells
2023

LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.

Cureus
2024

Clinical and functional spectrum of RAC2-related immunodeficiency.

Blood
2024

Extensive perineal ecthyma gangrenosum in leukocyte adhesion deficiency type 1 associated with Staphylococcus hominis bacteremia.

Pediatric dermatology
2023

Role of genetic introgression in introducing mutant alleles in Bos indicus cattle and prevalence of lethal genetic disorders in Bos taurus × Bos indicus and Bos indicus cattle in India.

Tropical animal health and production
2023

Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.

Allergologia et immunopathologia
2024

A novel leukocyte adhesion deficiency type III mutation manifests functional importance of the compact FERM domain in kindlin-3.

Journal of thrombosis and haemostasis : JTH
2023

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.

Clinical immunology (Orlando, Fla.)
2023

Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.

Clinical case reports
2023

The impact of Treosulfan-based conditioning for inborn errors of immunity: Is dose monitoring crucial?

Clinical transplantation
2023

Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2023

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

Clinical immunology (Orlando, Fla.)
2023

Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors.

Journal of clinical immunology
2023

The Role of LFA-1 for the Differentiation and Function of Regulatory T Cells-Lessons Learned from Different Transgenic Mouse Models.

International journal of molecular sciences
2023

Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.

Journal of clinical immunology
2023

Pediatric pyoderma gangrenosum associated with leukocyte adhesion deficiency type 1: A case report and review of the literature.

Pediatric dermatology
2023

[Leucocyte adhesion deficiency: detection of the first cases in Paraguay].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2023

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Blood cells, molecules &amp; diseases
2023

A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.

Journal of clinical immunology
2023

Phosphorylation Regulation Mechanism of β2 Integrin for the Binding of Filamin Revealed by Markov State Model.

Journal of chemical information and modeling
2022

Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I.

Frontiers in immunology
2022

Impaired Treg-DC interactions contribute to autoimmunity in leukocyte adhesion deficiency type 1.

JCI insight
2022

Preclinical Evaluation of Foamy Virus Vector-Mediated Gene Addition in Human Hematopoietic Stem/Progenitor Cells for Correction of Leukocyte Adhesion Deficiency Type 1.

Human gene therapy
2022

Preclinical safety and efficacy of lentiviral-mediated gene therapy for leukocyte adhesion deficiency type I.

Molecular therapy. Methods &amp; clinical development
2022

Impairment of cytokine production following immunological synapse formation in patients with Wiskott-Aldrich syndrome and leukocyte adhesion deficiency type 1.

Clinical immunology (Orlando, Fla.)
2022

β2 Integrins on Dendritic Cells Modulate Cytokine Signaling and Inflammation-Associated Gene Expression, and Are Required for Induction of Autoimmune Encephalomyelitis.

Cells
2022

Healing With Complication: An Unusual Case of Nasal Tip Ulceration in Leukocyte Adhesion Deficiency Type 1.

The journal of allergy and clinical immunology. In practice
2022

Incorporation of fucose into glycans independent of the GDP-fucose transporter SLC35C1 preferentially utilizes salvaged over de novo GDP-fucose.

The Journal of biological chemistry
2022

Neutrophil-Specific Knockdown of β2 Integrins Impairs Antifungal Effector Functions and Aggravates the Course of Invasive Pulmonal Aspergillosis.

Frontiers in immunology
2022

Selectin-Mediated Signaling-Shedding Light on the Regulation of Integrin Activity in Neutrophils.

Cells
2022

Understanding the Role of LFA-1 in Leukocyte Adhesion Deficiency Type I (LAD I): Moving towards Inflammation?

International journal of molecular sciences
2022

Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.

American journal of medical genetics. Part A
2022

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.

International journal of environmental research and public health
2022

Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 1.

Journal of clinical immunology
2022

Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.

BioMed research international
2024

Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a case of leukocyte adhesion deficiency type III.

Hematology, transfusion and cell therapy
2021

Examining the Effect of Kindlin-3 Binding Site Mutation on LFA-1-ICAM-1 Bonds by Force Measuring Optical Tweezers.

Frontiers in immunology
2021

T-Cell Adhesion in Healthy and Inflamed Skin.

JID innovations : skin science from molecules to population health
2022

An adult with severe leukocyte adhesion deficiency type 1.

JAAD case reports
2021

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

Tropical animal health and production
2021

Molecular Insights Into Neutrophil Biology From the Zebrafish Perspective: Lessons From CD18 Deficiency.

Frontiers in immunology
2021

Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.

Frontiers in pediatrics
2023

Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.

Journal of pediatric genetics
2021

A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.

Immunologic research
2022

A doggy tale: Risk of zoonotic infection with Bordetella bronchiseptica for cystic fibrosis (CF) patients from live licenced bacterial veterinary vaccines for cats and dogs.

Journal of clinical pharmacy and therapeutics
2021

Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.

Clinical and experimental immunology
2021

Perinatal Inflammation: Could Partial Blocking of Cell Adhesion Molecule Function Be a Solution?

Children (Basel, Switzerland)
2021

Prevalence of nine genetic defects in Chinese Holstein cattle.

Veterinary medicine and science
2020

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Irish medical journal
2021

Gene Therapies for Primary Immune Deficiencies.

Frontiers in immunology
2021

Pyoderma Gangrenosum with an Underlying Leukocyte Adhesion Deficiency Type 1 (LAD-1) and Pregnancy in the Shade of COVID-19 Epidemic: A Patient and Physician Experience.

Dermatology and therapy
2021

Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.

Blood advances
2020

Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Frontiers in immunology
2021

Kindlin3-Dependent CD11b/CD18-Integrin Activation Is Required for Potentiation of Neutrophil Cytotoxicity by CD47-SIRPα Checkpoint Disruption.

Cancer immunology research
2021

Genome editing in human hematopoietic stem and progenitor cells via CRISPR-Cas9-mediated homology-independent targeted integration.

Molecular therapy : the journal of the American Society of Gene Therapy
2020

Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.

Clinical immunology (Orlando, Fla.)
2021

CIN or not: An approach to the evaluation and management of chronic idiopathic neutrophilia.

Blood reviews
2020

The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.

The World Allergy Organization journal
2021

Kindlin-3 recruitment to the plasma membrane precedes high-affinity β2-integrin and neutrophil arrest from rolling.

Blood
2020

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.

Frontiers in immunology
2020

Frontline Science: Activation of metabolic nuclear receptors restores periodontal tissue homeostasis in mice with leukocyte adhesion deficiency-1.

Journal of leukocyte biology
2020

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Immunobiology
2020

Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies.

Journal of applied genetics
2020

Diapedesis-Induced Integrin Signaling via LFA-1 Facilitates Tissue Immunity by Inducing Intrinsic Complement C3 Expression in Immune Cells.

Immunity
2020

Successful umbilical cord blood transplantation in children with leukocyte adhesion deficiency type I.

Translational pediatrics
2020

β2 Integrins-Multi-Functional Leukocyte Receptors in Health and Disease.

International journal of molecular sciences
2020

Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis.

Clinical immunology (Orlando, Fla.)
2020

MSCs rescue impaired wound healing in a murine LAD1 model by adaptive responses to low TGF-β1 levels.

EMBO reports
2020

Distinct Contributions of CD18 Integrins for Binding and Phagocytic Internalization of Pseudomonas aeruginosa.

Infection and immunity
2020

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Allergy, asthma &amp; immunology research
2020

New developments in neutrophil biology and periodontitis.

Periodontology 2000
2020

Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview.

Methods in molecular biology (Clifton, N.J.)
2020

Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.

Pediatric blood &amp; cancer
2020

Technical note: Development and application of KASP assays for rapid screening of 8 genetic defects in Holstein cattle.

Journal of dairy science
2019

Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report.

Central-European journal of immunology
2019

Neutrophil phenotypes in chronic lung disease.

Expert review of respiratory medicine
2019

Force-Directed "Mechanointeractome" of Talin-Integrin.

Biochemistry
2019

Haploidentical stem cell transplantation with post-transplant cyclophosphamide in leukocyte adhesion deficiency type 1: a case report.

Annals of hematology
2019

A novel mutation of the ITGB2 gene in a Chinese Zhuang minority patient with leukocyte adhesion deficiency type 1 and glucose-6-phosphate dehydrogenase deficiency.

Gene
2019

Adhesive dynamics simulations quantitatively predict effects of kindlin-3 deficiency on T-cell homing.

Integrative biology : quantitative biosciences from nano to macro
2019

CRISPR-Cas9 fusion to dominant-negative 53BP1 enhances HDR and inhibits NHEJ specifically at Cas9 target sites.

Nature communications
2019

Efficiency of different fragment lengths of the ubiquitous chromatin opening element HNRPA2B1-CBX3 in driving human CD18 gene expression within self-inactivating lentiviral vectors for gene therapy applications.

Gene
2019

A β2-Integrin/MRTF-A/SRF Pathway Regulates Dendritic Cell Gene Expression, Adhesion, and Traction Force Generation.

Frontiers in immunology
2019

Primary Immunodeficiency Disorders Among North Indian Children.

Indian journal of pediatrics
2019

A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family.

Frontiers in genetics
2019

Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

Journal of clinical immunology
2019

Inflammatory consequences of inherited disorders affecting neutrophil function.

Blood
2019

Beta2-Integrins and Interacting Proteins in Leukocyte Trafficking, Immune Suppression, and Immunodeficiency Disease.

Frontiers in immunology
2019

Type I leucocyte adhesion deficiency in Yemenian family managed with appropriate treatment: A case series.

Dermatologic therapy
2019

CD11b Regulates Fungal Outgrowth but Not Neutrophil Recruitment in a Mouse Model of Invasive Pulmonary Aspergillosis.

Frontiers in immunology
2019

Macrophage β2-Integrins Regulate IL-22 by ILC3s and Protect from Lethal Citrobacter rodentium-Induced Colitis.

Cell reports
2019

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.

Molecular &amp; cellular proteomics : MCP
2019

Primary immunodeficiencies reveal the essential role of tissue neutrophils in periodontitis.

Immunological reviews
2019

Leucocyte adhesion deficiency-A multicentre national experience.

European journal of clinical investigation
2019

The Oral Microbiota Is Modified by Systemic Diseases.

Journal of dental research
2019

CD18 is redundant for the response to multiple vaccines: A case study.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2018

Pyoderma Gangrenosum-like Wounds in Leukocyte Adhesion Deficiency: Case Report and Review of Literature.

Plastic and reconstructive surgery. Global open
2018

ADAP1 limits neonatal cardiomyocyte hypertrophy by reducing integrin cell surface expression.

Scientific reports
2018

Palatal Ulcer in Leukocyte Adhesion Deficiency: an Unusual Occurrence.

Journal of clinical immunology
2018

[Novel mutations of ITGB2 induced leukocyte adhesion defect type 1].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2018

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.

Archives of Iranian medicine
2018

Leukocyte Adhesion Deficiency Type 1 with Low Expression of CD 11b.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2019

Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1.

Journal of pediatric hematology/oncology
2018

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

Clinical immunology (Orlando, Fla.)
2017

Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency.

Central-European journal of immunology
2018

Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation.

Haematologica
2018

T-ARMS PCR genotyping of SNP rs445709131 using thermostable strand displacement polymerase.

BMC research notes
2017

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.

Cytogenetic and genome research
2018

Leukocyte adhesion defect: An uncommon immunodeficiency.

JPMA. The Journal of the Pakistan Medical Association
2018

Leukocyte adhesion deficiency-I: A comprehensive review of all published cases.

The journal of allergy and clinical immunology. In practice
2018

Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency.

Journal of pediatric hematology/oncology
2018

Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.

Platelets
2017

Dental implants in a patient with suspected leucocyte adhesion deficiency.

BMJ case reports
2017

Leukocyte adhesion defect-I: rare primary immune deficiency.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2017

Primary Immunodeficiency Diseases: Current and Emerging Therapeutics.

Frontiers in immunology
2017

Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III.

Pediatrics and neonatology
2017

Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β2 (ITGB2) gene.

Veterinary clinical pathology
2017

Structural basis of kindlin-mediated integrin recognition and activation.

Proceedings of the National Academy of Sciences of the United States of America
2018

Necrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1.

Journal of pediatric hematology/oncology
2017

Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation.

Immunology letters
2017

Biological functions of fucose in mammals.

Glycobiology
2017

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2017

Beta2 integrins are required for follicular helper T cell differentiation in humans.

Clinical immunology (Orlando, Fla.)
2017

Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

The New England journal of medicine
2017

Skap2 is required for β2 integrin-mediated neutrophil recruitment and functions.

The Journal of experimental medicine
2017

Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2017

Leukocyte Adhesion Deficiency III: Report of Two Siblings.

Pediatrics and neonatology
2016

A Review of Selected Genes with Known Effects on Performance and Health of Cattle.

Frontiers in veterinary science
2016

Primary immune deficiencies with defects in neutrophil function.

Hematology. American Society of Hematology. Education Program
2016

Case 1: Recurrent Omphalitis and Nonhealing Ulcers in a 7-month-old Girl.

Pediatrics in review
2017

The role of kindlin in neutrophil recruitment to inflammatory sites.

Current opinion in hematology
2016

Production and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency.

Molecular therapy. Methods &amp; clinical development
2016

Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle.

SpringerPlus
2016

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

Journal of clinical immunology
2016

Brain Abscess in a Child with Leukocyte Adhesion Defect: An Unusual Association.

Journal of clinical immunology
2016

Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility.

Journal of dairy science
2016

Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis.

American journal of respiratory and critical care medicine
2016

Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.

Human gene therapy
2017

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2016

Immune and regulatory functions of neutrophils in inflammatory bone loss.

Seminars in immunology
2016

Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.

Indian journal of pediatrics
2016

Influenza H3N2 infection of the collaborative cross founder strains reveals highly divergent host responses and identifies a unique phenotype in CAST/EiJ mice.

BMC genomics
2016

The kindlin family: functions, signaling properties and implications for human disease.

Journal of cell science
2016

Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency.

American journal of respiratory and critical care medicine
2016

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

Human immunology
2015

Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran.

Archives of Iranian medicine
2015

Minimal amounts of kindlin-3 suffice for basal platelet and leukocyte functions in mice.

Blood
2016

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

Immunologic research
2016

Role of bacteria in leukocyte adhesion deficiency-associated periodontitis.

Microbial pathogenesis
2016

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2015

Loss of the Rap1 effector RIAM results in leukocyte adhesion deficiency due to impaired β2 integrin function in mice.

Blood
2015

Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells.

The Journal of experimental medicine
2015

Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association.

Pediatric blood &amp; cancer
2015

Neutrophil functional disorder in childhood.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2015

Interaction of kindlin-3 and β2-integrins differentially regulates neutrophil recruitment and NET release in mice.

Blood
2015

Optimal T Cell Activation and B Cell Antibody Responses In Vivo Require the Interaction between Leukocyte Function-Associated Antigen-1 and Kindlin-3.

Journal of immunology (Baltimore, Md. : 1950)
2015

Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions.

Journal of clinical immunology
2015

Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.

BMJ case reports
2015

A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III.

Pediatric blood &amp; cancer
2015

Epithelial adhesion molecules and the regulation of intestinal homeostasis during neutrophil transepithelial migration.

Tissue barriers
2015

Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology.

PLoS pathogens
2015

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.

Blood cells, molecules &amp; diseases
2015

The enduring importance of animal models in understanding periodontal disease.

Virulence
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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Integrin activation by two independently regulated calcium-mediated pathways is required for neutrophil recruitment.
    Cell communication and signaling : CCS· 2026· PMID 41566499mais citado
  2. Genetic Determinants of Wound Healing: Monogenic Disorders and Polygenic Influence.
    Cells· 2026· PMID 41511357mais citado
  3. L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
    Molecular genetics and metabolism· 2026· PMID 41529427mais citado
  4. Recurrent pyoderma gangrenosum-like ulcers in a child revealing leukocyte adhesion deficiency type I.
    Clinical and experimental dermatology· 2026· PMID 41664479mais citado
  5. Bone marrow transplantation for leukocyte adhesion deficiency type III: immunosuppressant dosage adjustments against severe T-cell mixed chimerism.
    Blood cell therapy· 2025· PMID 41368187mais citado
  6. Leukocyte Adhesion Deficiency in a 42-Day-Old Infant: A Case Report.
    Clin Case Rep· 2026· PMID 41994155recente
  7. A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings.
    J Pediatr Endocrinol Metab· 2026· PMID 41965132recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2968(Orphanet)
  2. MONDO:0017570(MONDO)
  3. GARD:16616(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q1154422(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Deficiência de adesão leucocitária

ORPHA:2968 · MONDO:0017570
Prevalência
Unknown
Casos
350 casos conhecidos
Herança
Autosomal recessive
CID-10
D84.8 · Outras imunodeficiências especificadas
CID-11
Ensaios
2 ativos
Início
Childhood, Infancy
Prevalência
0.0 (Latin America)
MedGen
UMLS
C0242597
EuropePMC
Wikidata
Papers 10a
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